WFS1 rabbit pAb

• Background:

  This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

• Description:

  This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009],

• UniProt:

  O76024

• Swiss Prot:

  O76024

• Reactivity:

  Human; Mouse

• Immunogen:

  Synthesized peptide derived from part region of human protein

• Clonality:

  Polyclonal

• Source:

  Rabbit

• Applications:

  WB; ELISA

• Concentration:

  1 mg/ml

• Dilution:

  WB 1:500-2000 ELISA 1:5000-20000

• Molecular Weight:

  97kD

• Storage Conditions:

  -20°C/1 year

• Observed Molecular Weight:

  97kD

• Fragment:

  IgG

• Subcellular Location:

  Endoplasmic reticulum membrane ; Multi-pass membrane protein . Cytoplasmic vesicle, secretory vesicle . Co-localizes with ATP6V1A in the secretory granules in neuroblastoma cell lines. .

• Gene ID (Human):

  7466